Canonical Allele Identifier: CA378931933
Gene: DEAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 592120
dbSNP Id: rs1564949612
gnomAD v3: 11-686886-G-A
gnomAD v4: 11-686886-G-A
COSMIC: COSM690267

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.686886G>A , CM000673.2:g.686886G>A GRCh38
NC_000011.9:g.686886G>A , CM000673.1:g.686886G>A GRCh37
NC_000011.8:g.676886G>A NCBI36
NG_034156.1:g.13869C>T
NG_034156.2:g.25198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525626.6:n.661C>T
ENST00000528864.6:n.662C>T
ENST00000530813.2:c.*399C>T ENSP00000508507.1:n.*399C>T
ENST00000682936.1:n.536C>T
ENST00000683307.1:c.50C>T ENSP00000507198.1:p.Ala17Val
ENST00000684249.1:n.964C>T
ENST00000685854.1:c.572C>T ENSP00000508801.1:p.Ala191Val
ENST00000686001.1:c.572C>T ENSP00000508459.1:p.Ala191Val
ENST00000687329.1:c.572C>T ENSP00000510598.1:p.Ala191Val
ENST00000689835.1:c.572C>T ENSP00000510621.1:p.Ala191Val
ENST00000690068.1:c.572C>T ENSP00000509089.1:p.Ala191Val
ENST00000692634.1:c.572C>T ENSP00000508859.1:p.Ala191Val
ENST00000693164.1:n.770C>T
ENST00000382409.4:c.776C>T MANE Select ENSP00000371846.3:p.Ala259Val
ENST00000382409.3:c.776C>T ENSP00000371846.3:p.Ala259Val
ENST00000527170.5:c.138C>T
NM_001293634.1:c.664+1025C>T NP_001280563.1:n.664+1025C>T
NM_021008.3:c.776C>T NP_066288.2:p.Ala259Val
XM_011519842.1:c.776C>T XP_011518144.1:p.Ala259Val
XM_011519843.1:c.776C>T XP_011518145.1:p.Ala259Val
XR_428838.2:n.782C>T
XR_930843.1:n.782C>T
XM_011519842.3:c.776C>T XP_011518144.1:p.Ala259Val
XM_024448325.1:c.776C>T XP_024304093.1:p.Ala259Val
XM_024448326.1:c.776C>T XP_024304094.1:p.Ala259Val
XM_024448327.1:c.776C>T XP_024304095.1:p.Ala259Val
NM_001367390.1:c.50C>T NP_001354319.1:p.Ala17Val
NM_021008.4:c.776C>T MANE Select NP_066288.2:p.Ala259Val